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Gene

FKTN

fukutin

Summary

Cytogenetic location
9q31.2
Coordinates
Chromosome 9: 105,558,131–105,641,118 (GRCh38)
Exons
11 exons across 83 kb
Protein
461 amino acids
Inheritance
Autosomal recessive
Also known as
LGMD2M
Previous symbols
FCMD
MANE Select transcript
ENST00000357998.10NM_001079802.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Congenital Muscular Dystrophies

    • Congenital muscular dystrophy

      A group of muscular dystrophies with onset at birth or in infancy, including dystroglycanopathies (such as FKRP, FKTN and POMT1/2-related forms).

      • 4 GenCC submitters rate it definitive or strong

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

  • Congenital Disorders of Glycosylation

    • Alpha-DystroglycanopathiesAutosomal recessive

      Muscle diseases caused by faulty sugar attachment (O-mannosylation) to alpha-dystroglycan, ranging from severe congenital muscular dystrophy with brain and eye involvement to milder limb-girdle weakness; also covered in more detail in the Congenital Muscular Dystrophies report.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
    • Congenital Disorders of Glycosylation (CDG)

      One of 98 genes linked to it

      A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

  • Limb-Girdle Muscular Dystrophy

    • Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How FKTN is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 9, with a bracket where FKTN sits. FKTN and 4 genes near it on chromosome 9, from 105,099,625 to 106,099,624.Chromosome 99q31.2p24.3p24.2p24.1p23p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q13q21.11q21.12q21.13q21.2q21.31q21.32q21.33q22.1q22.2q22.31q22.32q22.33q31.1q31.2q31.3q32q33.1q33.2q33.3q34.11q34.12q34.13q34.2q34.3105.2 Mb105.4 Mb105.6 Mb105.8 Mb106 MbSLC44A1: 105,244,519–105,439,873, forward strandSLC44A1FSD1L: 105,447,796–105,552,433, forward strandFSD1LFKTN: 105,558,131–105,641,118, forward strandFKTNTAL2: 105,656,229–105,665,420, forward strandTAL2TMEM38B: 105,694,340–105,776,629, forward strandTMEM38BDiagram of FKTN: 11 exons on the forward strand of chromosome 9Exon 3: 11 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 5: 15 known disease-causing sitesExon 6: 42 known disease-causing sitesExon 7: 14 known disease-causing sitesExon 8: 8 known disease-causing sitesExon 9: 18 known disease-causing sitesExon 10: 13 known disease-causing sitesExon 11: 14 known disease-causing sitesExon 1: 105,558,131–105,558,165, 35 basesExon 2: 105,573,655–105,573,746, 92 basesExon 3: 105,574,945–105,575,137, 193 basesExon 4: 105,596,598–105,596,657, 60 basesExon 5: 105,601,145–105,601,348, 204 basesExon 6: 105,604,215–105,604,492, 278 basesExon 7: 105,607,819–105,607,951, 133 basesExon 8: 105,615,278–105,615,407, 130 basesExon 9: 105,617,959–105,618,092, 134 basesExon 10: 105,619,934–105,620,061, 128 basesExon 11: 105,635,051–105,641,118, 6,068 bases12345678910115′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 7.5 kb of the gene's 83 kb; 1,386 of those bases code for the protein.

How a genome test reads FKTN

161

positions in FKTN where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 83 kb of FKTN, introns included, not only the 7.5 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). FKTN gene: fukutin. Retrieved 17 October 2026, from https://dantelabs.com/genes/fktn

Vancouver

Dante Labs. FKTN gene: fukutin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/fktn

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